Mitochondrial encephalomyopathy
スポンサーリンク
概要
- 論文の詳細を見る
- 2000-09-01
著者
-
GOTO Yu-ichi
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Nati
-
Goto Y
Department Of Mental Retardation And Birth Defect Research National Institute Of Neuroscience Nation
-
Goto Yu-ichi
Department Of Child Neurology National Center Hospital For Mental Nervous And Musculardisorders Nati
関連論文
- Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
- Early onset distal muscular dystrophy
- A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
- Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B_1 and B_2
- Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers(MERRF):a single-photon emission computed tomographic(SPECT)and electrophysiological study
- Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome
- Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
- A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
- A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy
- Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene
- Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
- Direct Evidence for Two Distinct Forms of the Flavoprotein Subunit of Human Mitochondrial Complex II (Succinate-Ubiquinone Reductase)
- Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
- Leigh syndrome caused by mitochondrial DNA G13513A mutation : frequency and clinical features in Japan
- Progressive myoclonus epilepsy with unusual neuropathologic features
- Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
- Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy
- Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency
- Mitochondrial encephalomyopathy
- Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy
- Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
- Profiles of blood biomarkers in alternating hemiplegia of childhood-Increased MMP-9 and decreased substance P indicates its pathophysiology
- Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle